GENETIC RISK FOR BREAST CANCER DEVELOPMENT
Main Article Content
Keywords
Genetic, Breast Cancer ATM, CHEK2, BARD1
Abstract
Objective: studies in the relation of moderate risk susceptibility genes in the onset of breast ca
Methods: Systematic random samples are done on selected Breast cancer patients from tertiary care hospitals in Karachi. The sample size was calculated using an online sample size calculator, Open Epi version 3.01 for case-controls, after inserting a 9.6% proportion of late menopause among cases, at a 5% margin of error and 95% confidence interval. The required sample size for our study was 74 with 37 participants in each group, but we took 100 samples in each group, making it a total of 200. This type of moderate-risk gene research and population-based study in correlation with high-risk gene variation is being conducted first time in the Pakistani population, therefore to see more effective results, we increase the sample size. Subjects were divided into two groups: Cases Group, which included 100 Known Naïve cases of Breast Ca (Females), and Control Group, which included 100 healthy individuals.
Results: The results of our study were from 100 breast cancer patients from a homogeneous population (Sindh). We found a correlation between age at diagnosis, family history, and mutation detection rate. Though our study has a limited number of patients, a low frequency of mutation in ATM, CHEK2, and BARD1 genes was reported.
Conclusion: Around 20% of hereditary breast cancer is account for variants in the high and moderate breast cancer susceptibility genes BRCA1, BRCA2, TP53, CHEK2, and RAD51C, in Pakistan (Muhammad et al, 2018). Convincingly identified five moderate-risk breast cancer susceptibility genes are: CHEK2, ATM, BRIP1, PALB2, and NBS1 (Rashid et al. 2013). Attempts should be made to develop a real-time assay for the diagnosis of mutations in moderate-risk (ATM, BARD1, and CHEK2) genes.
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12. Dev, H.; Chiang, T.W.W.; Lescale, C.; de Krijger, I.; Martin, A.G.; Pilger, D.; Coates, J.; Sczaniecka-Clift, M.; Wei, W.; Ostermaier, M.; et al. The shielding complex promotes DNA end-joining and counters homologous recombination in BRCA1-null cells. Nat. Cell Biol. 2018, 20, 954–965. [CrossRef]
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18. Guo, Z.P.; Hu, Y.C.; Xie, Y.; Jin, F.; Song, Z.Q.; Liu, X.D.; Ma, T.; Zhou, P.K.MLN4924suppressestheBRCA1 complex and synergizes with PARP inhibition in NSCLC cells. Biochem. Biophys. Res. Commun. 2017, 483, 223–229. [CrossRef]
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21. Huang, F.L.; Yu, S.J.Esophagealcancer: Risk factors, genetic association, and treatment.Asian J.Surg.2018, 41, 210–215. [CrossRef]
22. Irminger-Finger, I.; Ratajska, M.; Pilyugin, M. New concepts on BARD1: Regulator of BRCA pathways and beyond. Int. J. Biochem. Cell Biol. 2016, 72, 1–17. [CrossRef] [PubMed]
23. Lasorsa,V.A.;Formicola,D.;Pignataro,P.;Cimmino,F.;Calabrese,F.M.;Mora,J.;Esposito,M.R.;Pantile,M.; Zanon, C.; De Mariano, M.; et al. Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations affecting key pathways in cancer progression. Oncotarget 2016, 7, 21840–21852. [CrossRef]
24. Lee J.-H., Paull T.T. Mitochondria at the crossroads of ATM-mediated stress signaling and regulation of reactive oxygen species. Redox Biol. 2020;32:101511. doi: 10.1016/ j.redox.2020.101511. [PMC free article] [PubMed] [CrossRef] [Google Scholar]
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26. Liao, Y.; Yuan, S.; Chen, X.; Zhu, P.; Li, J.; Qin, L.; Liao, W. Up-regulation of BRCA1-associated RING Domain 1 promotes hepatocellular carcinoma progression by targeting Akt signaling. Sci. Rep. 2017, 7, 7649. [CrossRef] [PubMed]
27. Lubecka, K.; Flower, K.; Beetch, M.; Qiu, J.; Kurzava, L.; Buvala, H.; Ruhayel, A.; Gawrieh, S.; Liangpunsakul, S.; Gonzalez, T.; et al. Loci-specific differences in blood DNA methylation in HBV-negative populations at risk for hepatocellular carcinoma development. Epigenetics 2018, 13, 605–626. [CrossRef]
28. Mateo, J.; Lord, C.J.; Serra, V.; Tutt, A.; Balmaña, J.; Castroviejo-Bermejo, M.; Cruz, C.; Oaknin, A.; Kaye, S.B.; De Bono, J.S. A decade of clinical development of PARP inhibitors in perspective. Ann. Oncol. 2019, 30, 1437–1447. [CrossRef]
29. Moslemi M., Moradi Y., Dehghanbanadaki H., Afkhami H., Khaledi M., Sedighimehr N., Fathi J., Sohrabi E. The association between ATM variants and risk of breast cancer: A systematic review and meta-analysis. BMC Cancer. 2021;21:27. doi 10.1186/s12885-020-07749-6. [PMC free article] [PubMed] [CrossRef] [Google Scholar]
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Jan 20, 2023
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Dr. Kausar Abbas Saldera, Dr. Taseer Ahmed Khan, & Dr. Syed Mehboob Alam. (2023). GENETIC RISK FOR BREAST CANCER DEVELOPMENT. Journal of Population Therapeutics and Clinical Pharmacology, 30(1), 633-643. https://doi.org/10.53555/jptcp.v30i1.2911
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Author Biographies
Dr. Kausar Abbas Saldera
Ph.D. Scholar, Basic medical science institute (BMSI), JPMC, Karachi
Dr. Taseer Ahmed Khan
Professor, Department of Physiology, University of Karachi, Karachi
Dr. Syed Mehboob Alam
Professor, Department of Pharmacology, Jinnah Postgraduate medical center, Karachi
How to Cite
Dr. Kausar Abbas Saldera, Dr. Taseer Ahmed Khan, & Dr. Syed Mehboob Alam. (2023). GENETIC RISK FOR BREAST CANCER DEVELOPMENT. Journal of Population Therapeutics and Clinical Pharmacology, 30(1), 633-643. https://doi.org/10.53555/jptcp.v30i1.2911